Aliases for ATG5 Gene
Aliases for ATG5 Gene
External Ids for ATG5 Gene
- HGNC: 589
- Entrez Gene: 9474
- Ensembl: ENSG00000057663
- OMIM: 604261
- UniProtKB: Q9H1Y0
Previous HGNC Symbols for ATG5 Gene
- APG5L
Previous GeneCards Identifiers for ATG5 Gene
- GC06M106740
- GC06M106632
- GC06M104079
- GC06M106184
Summaries for ATG5 Gene
-
The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
GeneCards Summary for ATG5 Gene
ATG5 (Autophagy Related 5) is a Protein Coding gene. Diseases associated with ATG5 include Spinocerebellar Ataxia, Autosomal Recessive 25 and Stomatitis. Among its related pathways are Pink/Parkin Mediated Mitophagy and Ferroptosis. Gene Ontology (GO) annotations related to this gene include Atg8 ligase activity.
UniProtKB/Swiss-Prot for ATG5 Gene
-
Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway.
-
May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity. Plays a crucial role in IFN-gamma-induced autophagic cell death by interacting with FADD.
-
(Microbial infection) May act as a proviral factor. In association with ATG12, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for initiation of HCV replication, but not required once infection is established (PubMed:19666601).
Additional gene information for ATG5 Gene
- Monarch Initiative
- Search for ATG5 at DataMed
- Search for ATG5 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATG5 Gene
Genomics for ATG5 Gene
GeneHancer (GH) Regulatory Elements for ATG5 Gene
Promoters and enhancers for ATG5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around ATG5 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ATG5 gene promoter:
-
- p53
- SRF (504 AA)
- SRF
- Hlf
- FOXJ2
- FOXJ2 (long isoform)
- POU3F2
- RORalpha2
- HNF-3beta
Regulatory Element Products
Genomic Locations for ATG5 Gene
Genomic Locations for ATG5 Gene
- chr6:106,045,423-106,325,820
- (GRCh38/hg38)
- Size:
- 280,398 bases
- Orientation:
- Minus strand
- chr6:106,632,351-106,773,695
- (GRCh37/hg19)
- Size:
- 141,345 bases
- Orientation:
- Minus strand
Genomic View for ATG5 Gene
Genes around ATG5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q21 by Entrez Gene
- 6q21 by HGNC
- 6q21 by Ensembl
ATG5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ATG5 Gene
Proteins for ATG5 Gene
-
Protein details for ATG5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H1Y0-ATG5_HUMAN
- Recommended name:
- Autophagy protein 5
- Protein Accession:
- Q9H1Y0
- O60875
- Q5JVR2
- Q68DI4
- Q9H2B8
- Q9HCZ7
Protein attributes for ATG5 Gene
- Size:
- 275 amino acids
- Molecular mass:
- 32447 Da
- Quaternary structure:
-
- Forms a conjugate with ATG12 (PubMed:12207896, PubMed:11825910, PubMed:17709747, PubMed:26812546). The ATG5-ATG12 conjugate forms a complex with several units of ATG16L. Interacts with TECPR1; the interaction is direct and does not take place when ATG16L is associated with the ATG5-ATG12 conjugate (PubMed:21575909, PubMed:22342342). Interacts with DHX58/RIG-1, IFIH1/MDA5 and MAVS/IPS-1 in monomeric form as well as in ATG12-ATG5 conjugate form. The interaction with MAVS is further enhanced upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Interacts with ATG3 (PubMed:12207896, PubMed:11825910). Interacts with ATG7 and ATG10 (By similarity). Interacts with FADD (PubMed:15778222).
- (Microbial infection) Interacts transiently interacts with hepatitis C virus (HCV) protein NS5B during HCV infection.
Three dimensional structures from OCA and Proteopedia for ATG5 Gene
Protein Expression for ATG5 Gene
Post-translational modifications for ATG5 Gene
- Conjugated to ATG12; which is essential for autophagy, but is not required for association with isolation membrane.
- Acetylated by EP300.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for ATG5 Gene
Antibody Products
- R&D Systems Antibodies for ATG5 (ATG5)
-
Custom Antibody ServicesOriGene Antibodies for ATG5
- Novus Biologicals Antibodies for ATG5
-
Abcam antibodies for ATG5
- Invitrogen Antibodies for ATG5 (AFLGC-ATG5)
- antibodies-online: Search results for 291 available ATG5 Antibodies ranked by validation data
- Compare Top ATG5 Antibodies
-
Recommended
- 218 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 IHC (p) Antibodies (anti-human)
- 1 IHC Antibody (anti-human)
- 97 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 72 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- GeneTex ATG5 Antibody for ATG5
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATG5
Protein Products
-
OriGene Purified Proteins for ATG5
- Search Origene for MassSpec and Protein Over-expression Lysates for ATG5
- Origene Custom Protein Services for ATG5
- ProSpec Recombinant Proteins for ATG5
- Search GeneTex for Proteins for ATG5
-
ProSci Proteins for ATG5
-
Abcam proteins for ATG5
Assay Products
No data available for DME Specific Peptides for ATG5 Gene
Domains & Families for ATG5 Gene
Gene Families for ATG5 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for ATG5 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ATG5 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9H1Y0- Family:
-
- Belongs to the ATG5 family.
Function for ATG5 Gene
Molecular function for ATG5 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway.
- UniProtKB/Swiss-Prot Function:
- May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity. Plays a crucial role in IFN-gamma-induced autophagic cell death by interacting with FADD.
- UniProtKB/Swiss-Prot Function:
- (Microbial infection) May act as a proviral factor. In association with ATG12, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for initiation of HCV replication, but not required once infection is established (PubMed:19666601).
- UniProtKB/Swiss-Prot Induction:
- By apoptotic stimuli.
Phenotypes From GWAS Catalog for ATG5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 9852036 |
| GO:0019776 | contributes_to Atg8 ligase activity | IBA | -- |
Phenotypes for ATG5 Gene
- MGI mutant phenotypes for ATG5:
-
inferred from 4 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- liver/biliary system phenotype
- normal phenotype
- hearing/vestibular/ear phenotype
- renal/urinary system phenotype
- adipose tissue phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for ATG5:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ATG5
-
CRISPR Products
-
OriGene CRISPR knockouts for ATG5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATG5
- genomics-online: gRNA clones - Search results for 128 available ATG5 gene related products
- Overview of 128 available ATG5 gene related products
- Applied Biological Materials CRISPR for ATG5
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATG5
- GenScript: Design CRISPR guide RNA sequences for ATG5
miRNA for ATG5 Gene
- miRTarBase miRNAs that target ATG5
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATG5
- Browse OriGene Inhibitory RNA Products For ATG5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATG5
- genomics-online: shRNA clones - Search results for 128 available ATG5 gene related products
- Overview of 128 available ATG5 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ATG5
- Addgene plasmids for ATG5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATG5
- Applied Biological Materials Clones for ATG5
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ATG5
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATG5 Gene
Localization for ATG5 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ATG5 Gene
- Cytoplasm. Preautophagosomal structure membrane; Peripheral membrane protein. Note=Colocalizes with nonmuscle actin. The conjugate detaches from the membrane immediately before or after autophagosome formation is completed (By similarity). Localizes also to discrete punctae along the ciliary axoneme and to the base of the ciliary axoneme. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| mitochondrion | 3 |
| lysosome | 3 |
| plasma membrane | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| extracellular | 1 |
- Centrosome (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,ISS | -- |
| GO:0005776 | autophagosome | IDA | 15292400 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005930 | axoneme | IEA,ISS | -- |
| GO:0016020 | membrane | IDA,IEA | 23093945 |
Pathways & Interactions for ATG5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Autophagy Pathway |
.34
|
|
| 2 | RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways | ||
| 3 | Longevity regulating pathway | ||
| 4 | Innate Immune System |
.61
|
|
| 5 | Pink/Parkin Mediated Mitophagy |
1.00
|
|
Pathways by source for ATG5 Gene
1 GeneTex pathway for ATG5 Gene
3 BioSystems pathways for ATG5 Gene
8 Reactome pathways for ATG5 Gene
9 KEGG pathways for ATG5 Gene
1 R&D Systems pathway for ATG5 Gene
Interacting Proteins for ATG5 Gene
Selected Interacting proteins:
Q9H1Y0-ATG5_HUMAN
ENSP00000343313
for ATG5 Gene via
UniProtKB
STRING
MINT
IID
GPS-Prot Interaction Network for ATG5
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000045 | autophagosome assembly | ISS | -- |
| GO:0000422 | autophagy of mitochondrion | IBA,IEA | -- |
| GO:0001974 | blood vessel remodeling | IEA | -- |
| GO:0002376 | immune system process | IEA | -- |
| GO:0002739 | regulation of cytokine secretion involved in immune response | IEA | -- |
Drugs & Compounds for ATG5 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Adalimumab | Approved | Pharma | 521 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for ATG5 Gene
mRNA/cDNA for ATG5 Gene
- (6) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (214) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000636437 2261 bps
- ENST00000636335 1219 bps
- ENST00000475645 2659 bps (uc063qit.1)
- ENST00000343245 3092 bps (uc031spi.3)
- ENST00000360666 2712 bps (uc010kdc.4)
CRISPR Products
-
OriGene CRISPR knockouts for ATG5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATG5
- genomics-online: gRNA clones - Search results for 128 available ATG5 gene related products
- Overview of 128 available ATG5 gene related products
- Applied Biological Materials CRISPR for ATG5
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATG5
- GenScript: Design CRISPR guide RNA sequences for ATG5
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATG5
- Browse OriGene Inhibitory RNA Products For ATG5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATG5
- genomics-online: shRNA clones - Search results for 128 available ATG5 gene related products
- Overview of 128 available ATG5 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ATG5
- Addgene plasmids for ATG5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATG5
- Applied Biological Materials Clones for ATG5
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||
| SP5: | - | - | - | - |
Expression for ATG5 Gene
This gene is overexpressed in Stomach (8.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATG5 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ATG5 Gene:
ATG5SOURCE GeneReport for Unigene cluster for ATG5 Gene:
Hs.486063mRNA Expression by UniProt/SwissProt for ATG5 Gene:
Q9H1Y0-ATG5_HUMAN
Tissue specificity:
Ubiquitous. The mRNA is present at similar levels in viable and apoptotic cells, whereas the protein is dramatically highly expressed in apoptotic cells.
Evidence on tissue expression from TISSUES for ATG5 Gene
- Nervous system(4.7)
- Lung(2.5)
- Heart(2.4)
- Liver(2.4)
- Muscle(2.4)
- Blood(2.2)
- Intestine(2.2)
- Kidney(2.2)
- Spleen(2)
Primer Products
-
OriGene qPCR primer pairs for ATG5
-
OriGene qPCR primer pairs and template standards for ATG5
- genomics-online: primer clones - Search results for 128 available ATG5 gene related products
- Overview of 128 available ATG5 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATG5 Gene
Orthologs for ATG5 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ATG5 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ATG5 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ATG5 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ATG5 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Atg5 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ATG5 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ATG5 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ATG5 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | atg5 33 |
|
||
| Str.17181 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.23730 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | atg5 34 33 |
|
OneToOne | |
| Dr.12686 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010939 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Atg5 34 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | atg-5 34 33 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ATG5 36 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | APG5 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os02g0117800 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7077 34 |
|
OneToOne |
- Species where no ortholog for ATG5 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for ATG5 Gene
- ENSEMBL:
- Gene Tree for ATG5 (if available)
- TreeFam:
- Gene Tree for ATG5 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATG5: view image
Paralogs for ATG5 Gene
(1) SIMAP similar genes for ATG5 Gene using alignment to 4 proteins:
- ATG5_HUMAN
- A9UGY9_HUMAN
- L7UMD8_HUMAN
- L7UQJ2_HUMAN
No data available for Paralogs for ATG5 Gene
Variants for ATG5 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| VAR_036243 | A colorectal cancer sample | p.Lys58Met | |||
| VAR_079274 | Spinocerebellar ataxia, autosomal recessive, 25 (SCAR25) [MIM:617584] | p.Glu122Asp | |||
| rs1000031275 | -- | 106,211,094(-) | A/G | intron_variant | |
| rs1000050530 | -- | 106,224,135(-) | T/A | intron_variant | |
| rs1000055845 | -- | 106,259,446(-) | T/A | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv391n21 | CNV | gain | 19592680 |
| dgv6134n100 | CNV | gain | 25217958 |
| esv24511 | CNV | loss | 19812545 |
| esv2615044 | CNV | insertion | 19546169 |
| esv26469 | CNV | gain | 19812545 |
| esv2657202 | CNV | deletion | 23128226 |
| esv2677509 | CNV | deletion | 23128226 |
| esv3450548 | CNV | insertion | 20981092 |
| esv3610266 | CNV | gain | 21293372 |
| esv3610267 | CNV | gain | 21293372 |
| esv3610268 | CNV | gain | 21293372 |
| esv3610270 | CNV | loss | 21293372 |
| esv3610271 | CNV | loss | 21293372 |
| esv3610272 | CNV | gain | 21293372 |
| esv3610273 | CNV | loss | 21293372 |
| nsv1025231 | CNV | gain | 25217958 |
| nsv1161442 | CNV | duplication | 26073780 |
Residual Variation Intolerance Score:
42.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.64;
31.46% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ATG5 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATG5 Gene
Disorders for ATG5 Gene
(5) MalaCards diseases for ATG5 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinocerebellar ataxia, autosomal recessive 25 |
|
|
| stomatitis |
|
|
| hepatitis c virus |
|
|
| spinocerebellar ataxia 14 |
|
|
| bardet-biedl syndrome 4 |
|
|
Search ATG5 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ATG5_HUMAN- Spinocerebellar ataxia, autosomal recessive, 25 (SCAR25) [MIM:617584]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR25 patients manifest delayed psychomotor development with delayed walking, truncal ataxia, dysmetria, and nystagmus, Cerebellar hypoplasia is seen on brain imaging. {ECO:0000269 PubMed:26812546}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ATG5
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ATG5 Gene
Publications for ATG5 Gene
- Essential roles of Atg5 and FADD in autophagic cell death: dissection of autophagic cell death into vacuole formation and cell death. (PMID: 15778222) Pyo JO … Jung YK (The Journal of biological chemistry 2005) 2 3 4 22 58
- Homology between a human apoptosis specific protein and the product of APG5, a gene involved in autophagy in yeast. (PMID: 9563500) Hammond EM … Grand RJ (FEBS letters 1998) 2 3 4 22 58
- Frameshift mutations of autophagy-related genes ATG2B, ATG5, ATG9B and ATG12 in gastric and colorectal cancers with microsatellite instability. (PMID: 19197948) Kang MR … Lee SH (The Journal of pathology 2009) 3 22 44 58
- Regulation of autophagy by the p300 acetyltransferase. (PMID: 19124466) Lee IH … Finkel T (The Journal of biological chemistry 2009) 3 4 22 58
- A new protein conjugation system in human. The counterpart of the yeast Apg12p conjugation system essential for autophagy. (PMID: 9852036) Mizushima N … Ohsumi Y (The Journal of biological chemistry 1998) 3 4 22 58
Products for ATG5 Gene
- R&D Systems Antibodies for ATG5 (ATG5)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
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- Custom Antibody ServicesOriGene Antibodies for ATG5
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ATG5
- Search Origene for MassSpec and Protein Over-expression Lysates for ATG5
- Origene Custom Protein Services for ATG5
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATG5
- Browse OriGene Inhibitory RNA Products For ATG5
- OriGene qPCR primer pairs for ATG5
- OriGene qPCR primer pairs and template standards for ATG5
- OriGene CRISPR knockouts for ATG5
- OriGene ORF clones in human for ATG5
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Next-day shipping of latest version cDNA ORF clones for ATG5 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ATG5
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- GenScript Custom overexpressing Cell Line Services for ATG5
- GenScript: Design CRISPR guide RNA sequences for ATG5
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- CloneReady with Over 120,000 Genes
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- Sino Biological Human cDNA Clone for ATG5
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for ATG5
- Novus Biologicals proteins and lysates for ATG5
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Abcam antibodies for ATG5
- Abcam proteins for ATG5
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- ProSpec Recombinant Proteins for ATG5
- Invitrogen Antibodies for ATG5 (AFLGC-ATG5)
- Cyagen custom Knockout/knockin (KOKI) mouse models for ATG5
- Addgene plasmids for ATG5
- antibodies-online: Search results for 291 available ATG5 Antibodies ranked by validation data
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- Recommended
- 218 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 IHC (p) Antibodies (anti-human)
- 1 IHC Antibody (anti-human)
- 97 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 72 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- antibodies-online: Search results for 11 available ATG5 Elisa Kits ranked by validation data
- Compare Top ATG5 Elisa Kits
- antibodies-online: Search results for 32 available ATG5 Proteins ranked by validation data
- Compare Top ATG5 Proteins
- GeneTex ATG5 Antibody for ATG5
- Search GeneTex for Proteins for ATG5
- Santa Cruz Biotechnology (SCBT) Antibodies for ATG5
- Search Santa Cruz Biotechnology (SCBT) for ATG5 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ATG5
- Horizon Cell Lines for ATG5
- genomics-online: cdna clones - Search results for 128 available ATG5 gene related products
- Overview of 128 available ATG5 gene related products
- orf clones - Search results for 128 available ATG5 gene related products
- Overview of 128 available ATG5 gene related products
- genomics-online: gRNA clones - Search results for 128 available ATG5 gene related products
- Overview of 128 available ATG5 gene related products
- genomics-online: primer clones - Search results for 128 available ATG5 gene related products
- Overview of 128 available ATG5 gene related products
- genomics-online: shRNA clones - Search results for 128 available ATG5 gene related products
- Overview of 128 available ATG5 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATG5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATG5
- GeneCopoeia miRNA 3'UTR Target clone products for ATG5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATG5
Sources for ATG5 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt